PDF(Pubmed)
Abstract：
UNASSIGNED: We report the clinical presentation and evolution of a case with a novel Progranulin gene (GRN) mutation and non-fluent language disturbances at onset.
UNASSIGNED: A 60 year-old, white patient was followed due to a history of language disturbances. Eighteen months after onset, the patient underwent FDG positron emission tomography (PET), and at month 24 was hospitalized to perform neuropsychological evaluation, brain 3 T MRI, lumbar puncture for cerebrospinal fluid (CSF) analysis, and genotyping. At month 31, the patient repeated the neuropsychological evaluation and brain MRI.
UNASSIGNED: At onset the patient complained prominent language production difficulties, such as effortful speech and anomia. At month 18, FDG-PET showed left fronto-temporal and striatal hypometabolism. At month 24, the neuropsychological evaluation reported prevalent speech and comprehension deficits. Brain MRI reported left fronto-opercular and striatal atrophy, and left frontal periventricular white matter hyperintensities (WMHs). Increased CSF total tau level was observed. Genotyping revealed a new GRN c.1018delC (p.H340TfsX21) mutation. The patient received a diagnosis of non-fluent variant of primary progressive aphasia (nfvPPA). At month 31, language deficits worsened, together with attention and executive functions. The patient presented also with behavioral disturbances, and a progressive atrophy in the left frontal-opercular and temporo-mesial region.
UNASSIGNED: The new GRN p.H340TfsX21 mutation resulted in a case of nfvPPA characterized by fronto-temporal and striatal alterations, typical frontal asymmetric WMHs, and a fast progression toward a widespread cognitive and behavioral impairment, which reflects a frontotemporal lobar degeneration. Our findings extend the current knowledge of the phenotypic heterogeneity among GRN mutation carriers.
UNASSIGNED: A 60 year-old, white patient was followed due to a history of language disturbances. Eighteen months after onset, the patient underwent FDG positron emission tomography (PET), and at month 24 was hospitalized to perform neuropsychological evaluation, brain 3 T MRI, lumbar puncture for cerebrospinal fluid (CSF) analysis, and genotyping. At month 31, the patient repeated the neuropsychological evaluation and brain MRI.
UNASSIGNED: At onset the patient complained prominent language production difficulties, such as effortful speech and anomia. At month 18, FDG-PET showed left fronto-temporal and striatal hypometabolism. At month 24, the neuropsychological evaluation reported prevalent speech and comprehension deficits. Brain MRI reported left fronto-opercular and striatal atrophy, and left frontal periventricular white matter hyperintensities (WMHs). Increased CSF total tau level was observed. Genotyping revealed a new GRN c.1018delC (p.H340TfsX21) mutation. The patient received a diagnosis of non-fluent variant of primary progressive aphasia (nfvPPA). At month 31, language deficits worsened, together with attention and executive functions. The patient presented also with behavioral disturbances, and a progressive atrophy in the left frontal-opercular and temporo-mesial region.
UNASSIGNED: The new GRN p.H340TfsX21 mutation resulted in a case of nfvPPA characterized by fronto-temporal and striatal alterations, typical frontal asymmetric WMHs, and a fast progression toward a widespread cognitive and behavioral impairment, which reflects a frontotemporal lobar degeneration. Our findings extend the current knowledge of the phenotypic heterogeneity among GRN mutation carriers.
摘要：
■我们报告了一个病例的临床表现和演变，该病例具有一个新的前颗粒蛋白基因（GRN）突变和非流利的语言障碍。
■一位60岁的老人,由于有语言障碍史，对白人患者进行了随访。发病18个月后,患者接受了FDG正电子发射断层扫描（PET），在第24个月住院进行神经心理学评估，脑3TMRI,腰椎穿刺脑脊液（CSF）分析，和基因分型。在31个月时,患者重复神经心理学评估和脑MRI。
■患者起病时主诉明显的语言表达困难，比如费力的演讲和失范。在第18个月时，FDG-PET显示左额颞叶和纹状体低代谢。在第24个月，神经心理学评估报告了普遍存在的言语和理解缺陷。脑MRI报告左额-手术和纹状体萎缩，和左心室额叶周围白质高信号（WMHs）。观察到CSF总tau水平增加。基因分型揭示了一个新的GRNc.1018delC（p。H340TfsX21）突变。患者接受了原发性进行性失语症（nfvPPA）的非流利变体诊断。在第31个月，语言赤字恶化，以及注意力和执行功能。患者还表现出行为障碍，左额叶和颞内侧区域进行性萎缩。
■新的GRNp.H340TfsX21突变导致nfvPPA病例以额颞叶和纹状体改变为特征，典型的额叶不对称WMHs，并迅速发展为广泛的认知和行为障碍，这反映了额颞叶变性。我们的发现扩展了目前对GRN突变携带者之间表型异质性的认识。
■一位60岁的老人,由于有语言障碍史，对白人患者进行了随访。发病18个月后,患者接受了FDG正电子发射断层扫描（PET），在第24个月住院进行神经心理学评估，脑3TMRI,腰椎穿刺脑脊液（CSF）分析，和基因分型。在31个月时,患者重复神经心理学评估和脑MRI。
■患者起病时主诉明显的语言表达困难，比如费力的演讲和失范。在第18个月时，FDG-PET显示左额颞叶和纹状体低代谢。在第24个月，神经心理学评估报告了普遍存在的言语和理解缺陷。脑MRI报告左额-手术和纹状体萎缩，和左心室额叶周围白质高信号（WMHs）。观察到CSF总tau水平增加。基因分型揭示了一个新的GRNc.1018delC（p。H340TfsX21）突变。患者接受了原发性进行性失语症（nfvPPA）的非流利变体诊断。在第31个月，语言赤字恶化，以及注意力和执行功能。患者还表现出行为障碍，左额叶和颞内侧区域进行性萎缩。
■新的GRNp.H340TfsX21突变导致nfvPPA病例以额颞叶和纹状体改变为特征，典型的额叶不对称WMHs，并迅速发展为广泛的认知和行为障碍，这反映了额颞叶变性。我们的发现扩展了目前对GRN突变携带者之间表型异质性的认识。
